NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay

por Mavillard, Fabiola, Madruga‐Garrido, Marcos, Rivas, Eloy, Servián‐Morilla, Emilia, Ávila‐Polo, Rainiero, Marcos, Irene, Morón, Francisco J., Paradas, Carmen, Cabrera‐Serrano, Macarena
Publicado 2019

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

por Domínguez-González, Cristina, Madruga-Garrido, Marcos, Hirano, Michio, Martí, Itxaso, Martín, Miguel A., Munell, Francina, Nascimento, Andrés, Olivé, Montse, Quan, Joanne, Sardina, M. Dolores, Martí, Ramon, Paradas, Carmen
Publicado 2021

Design of a Non-Interventional Study to Validate a Set of Patient- and Caregiver-Oriented Measurements to Assess Health Outcomes in Spinal Muscular Atrophy (SMA-TOOL Study)

por Madruga-Garrido, Marcos, Vázquez-Costa, Juan F., Medina-Cantillo, Julita, Brañas, María, Cattinari, María G., de Lemus, Mencía, Díaz-Abós, Paola, Sánchez-Menéndez, Victoria, Terrancle, Ángeles, Rebollo, Pablo, Maurino, Jorge
Publicado 2021

Vanishing White Matter Disease in a Spanish Population

por Turón-Viñas, Eulàlia, Pineda, Mercè, Cusí, Victòria, López-Laso, Eduardo, del Pozo, Rebeca Losada, Gutiérrez-Solana, Luis González, Moreno, David Conejo, Sierra-Córcoles, Concha, Olabarrieta-Hoyos, Naiara, Madruga-Garrido, Marcos, Aguirre-Rodríguez, Javier, González-Álvarez, Verónica, O’Callaghan, Mar, Muchart, Jordi, Armstrong-Moron, Judith
Publicado 2014

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

por Gonzalez-Quereda, Lidia, Rodriguez, Maria Jose, Diaz-Manera, Jordi, Alonso-Perez, Jorge, Gallardo, Eduard, Nascimento, Andres, Ortez, Carlos, Natera-de Benito, Daniel, Olive, Montse, Gonzalez-Mera, Laura, Lopez de Munain, Adolfo, Zulaica, Miren, Poza, Juan Jose, Jerico, Ivonne, Torne, Laura, Riera, Pau, Milisenda, Jose, Sanchez, Aurora, Garrabou, Gloria, Llano, Isabel, Madruga-Garrido, Marcos, Gallano, Pia
Publicado 2020

Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder

por Bain, Jennifer M., Thornburg, Olivia, Pan, Cheryl, Rome-Martin, Donnielle, Boyle, Lia, Fan, Xiao, Devinsky, Orrin, Frye, Richard, Hamp, Silke, Keator, Cynthia G., LaMarca, Nicole M., Maddocks, Alexis B.R., Madruga-Garrido, Marcos, Niederhoffer, Karen Y., Novara, Francesca, Peron, Angela, Poole-Di Salvo, Elizabeth, Salazar, Rachel, Skinner, Steven A., Soares, Gabriela, Goldman, Sylvie, Chung, Wendy K.
Publicado 2021

Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study

por Vázquez-Costa, Juan F., Branas-Pampillón, María, Medina-Cantillo, Julita, Povedano, Mónica, Pitarch-Castellano, Inmaculada, López-Lobato, Mercedes, Fernández-Ramos, Joaquín A., Lafuente-Hidalgo, Miguel, Rojas-García, Ricard, Caballero-Caballero, José M., Málaga, Ignacio, Eirís-Puñal, Jesús, De Lemus, Mencía, Cattinari, María G., Cabello-Moruno, Rosana, Díaz-Abós, Paola, Sánchez-Menéndez, Victoria, Rebollo, Pablo, Maurino, Jorge, Madruga-Garrido, Marcos
Publicado 2022

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

por Dominguez-Gonzalez, Cristina, Badosa, Carmen, Madruga-Garrido, Marcos, Martí, Itxaso, Paradas, Carmen, Ortez, Carlos, Diaz-Manera, Jordi, Berardo, Andres, Alonso-Pérez, Jorge, Trifunov, Selena, Cuadras, Daniel, Kalko, Susana G., Blázquez-Bermejo, Cora, Cámara, Yolanda, Martí, Ramon, Mavillard, Fabiola, Martin, Miguel A., Montoya, Julio, Ruiz-Pesini, Eduardo, Villarroya, Joan, Montero, Raquel, Villarroya, Francesc, Artuch, Rafael, Hirano, Michio, Nascimento, Andrés, Jimenez-Mallebrera, Cecilia
Publicado 2020

Retrospective natural history of thymidine kinase 2 deficiency

por Garone, Caterina, Taylor, Robert W, Nascimento, Andrés, Poulton, Joanna, Fratter, Carl, Domínguez-González, Cristina, Evans, Julie C, Loos, Mariana, Isohanni, Pirjo, Suomalainen, Anu, Ram, Dipak, Hughes, M Imelda, McFarland, Robert, Barca, Emanuele, Lopez Gomez, Carlos, Jayawant, Sandeep, Thomas, Neil D, Manzur, Adnan Y, Kleinsteuber, Karin, Martin, Miguel A, Kerr, Timothy, Gorman, Grainne S, Sommerville, Ewen W, Chinnery, Patrick F, Hofer, Monika, Karch, Christoph, Ralph, Jeffrey, Cámara, Yolanda, Madruga-Garrido, Marcos, Domínguez-Carral, Jana, Ortez, Carlos, Emperador, Sonia, Montoya, Julio, Chakrapani, Anupam, Kriger, Joshua F, Schoenaker, Robert, Levin, Bruce, Thompson, John L P, Long, Yuelin, Rahman, Shamima, Donati, Maria Alice, DiMauro, Salvatore, Hirano, Michio
Publicado 2018

Investigation of gene–environment interactions in relation to tic severity

por Abdulkadir, Mohamed, Yu, Dongmei, Osiecki, Lisa, King, Robert A., Fernandez, Thomas V., Brown, Lawrence W., Cheon, Keun-Ah, Coffey, Barbara J., Garcia-Delgar, Blanca, Gilbert, Donald L., Grice, Dorothy E., Hagstrøm, Julie, Hedderly, Tammy, Heyman, Isobel, Hong, Hyun Ju, Huyser, Chaim, Ibanez-Gomez, Laura, Kim, Young Key, Kim, Young-Shin, Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett, Madruga-Garrido, Marcos, Maras, Athanasios, Mir, Pablo, Morer, Astrid, Münchau, Alexander, Plessen, Kerstin J., Roessner, Veit, Shin, Eun-Young, Song, Dong-Ho, Song, Jungeun, Visscher, Frank, Zinner, Samuel H., Mathews, Carol A., Scharf, Jeremiah M., Tischfield, Jay A., Heiman, Gary A., Dietrich, Andrea, Hoekstra, Pieter J.
Publicado 2021

Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach

por Abdulkadir, Mohamed, Londono, Douglas, Gordon, Derek, Fernandez, Thomas V., Brown, Lawrence W., Cheon, Keun-Ah, Coffey, Barbara J., Elzerman, Lonneke, Fremer, Carolin, Fründt, Odette, Garcia-Delgar, Blanca, Gilbert, Donald L., Grice, Dorothy E., Hedderly, Tammy, Heyman, Isobel, Hong, Hyun Ju, Huyser, Chaim, Ibanez-Gomez, Laura, Jakubovski, Ewgeni, Kim, Young Key, Kim, Young Shin, Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett, Ludolph, Andrea G., Madruga-Garrido, Marcos, Maras, Athanasios, Mir, Pablo, Morer, Astrid, Müller-Vahl, Kirsten, Münchau, Alexander, Murphy, Tara L., Plessen, Kerstin J., Roessner, Veit, Shin, Eun-Young, Song, Dong-Ho, Song, Jungeun, Tübing, Jennifer, van den Ban, Els, Visscher, Frank, Wanderer, Sina, Woods, Martin, Zinner, Samuel H., King, Robert A., Tischfield, Jay A., Heiman, Gary A., Hoekstra, Pieter J., Dietrich, Andrea
Publicado 2017

Synaptic processes and immune-related pathways implicated in Tourette syndrome

por Tsetsos, Fotis, Yu, Dongmei, Sul, Jae Hoon, Huang, Alden Y., Illmann, Cornelia, Osiecki, Lisa, Darrow, Sabrina M., Hirschtritt, Matthew E., Greenberg, Erica, Muller-Vahl, Kirsten R., Stuhrmann, Manfred, Dion, Yves, Rouleau, Guy A., Aschauer, Harald, Stamenkovic, Mara, Schlögelhofer, Monika, Sandor, Paul, Barr, Cathy L., Grados, Marco A., Singer, Harvey S., Nöthen, Markus M., Hebebrand, Johannes, Hinney, Anke, King, Robert A., Fernandez, Thomas V., Barta, Csaba, Tarnok, Zsanett, Nagy, Peter, Depienne, Christel, Worbe, Yulia, Hartmann, Andreas, Budman, Cathy L., Rizzo, Renata, Lyon, Gholson J., McMahon, William M., Batterson, James R., Cath, Danielle C., Malaty, Irene A., Okun, Michael S., Berlin, Cheston, Woods, Douglas W., Lee, Paul C., Jankovic, Joseph, Robertson, Mary M., Gilbert, Donald L., Brown, Lawrence W., Coffey, Barbara J., Dietrich, Andrea, Hoekstra, Pieter J., Kuperman, Samuel, Zinner, Samuel H., Wagner, Michael, Knowles, James A., Jeremy Willsey, A., Tischfield, Jay A., Heiman, Gary A., Cox, Nancy J., Freimer, Nelson B., Neale, Benjamin M., Davis, Lea K., Coppola, Giovanni, Mathews, Carol A., Scharf, Jeremiah M., Paschou, Peristera, Barr, Cathy L., Batterson, James R., Berlin, Cheston, Budman, Cathy L., Cath, Danielle C., Coppola, Giovanni, Cox, Nancy J., Darrow, Sabrina, Davis, Lea K., Dion, Yves, Freimer, Nelson B., Grados, Marco A., Greenberg, Erica, Hirschtritt, Matthew E., Huang, Alden Y., Illmann, Cornelia, King, Robert A., Kurlan, Roger, Leckman, James F., Lyon, Gholson J., Malaty, Irene A., Mathews, Carol A., McMahon, William M., Neale, Benjamin M., Okun, Michael S., Osiecki, Lisa, Robertson, Mary M., Rouleau, Guy A., Sandor, Paul, Scharf, Jeremiah M., Singer, Harvey S., Smit, Jan H., Sul, Jae Hoon, Yu, Dongmei, Aschauer, Harald Aschauer Harald, Barta, Csaba, Budman, Cathy L., Cath, Danielle C., Depienne, Christel, Hartmann, Andreas, Hebebrand, Johannes, Konstantinidis, Anastasios, Mathews, Carol A., Müller-Vahl, Kirsten, Nagy, Peter, Nöthen, Markus M., Paschou, Peristera, Rizzo, Renata, Rouleau, Guy A., Sandor, Paul, Scharf, Jeremiah M., Schlögelhofer, Monika, Stamenkovic, Mara, Stuhrmann, Manfred, Tsetsos, Fotis, Tarnok, Zsanett, Wolanczyk, Tomasz, Worbe, Yulia, Brown, Lawrence, Cheon, Keun-Ah, Coffey, Barbara J., Dietrich, Andrea, Fernandez, Thomas V., Garcia-Delgar, Blanca, Gilbert, Donald, Grice, Dorothy E., Hagstrøm, Julie, Hedderly, Tammy, Heiman, Gary A., Heyman, Isobel, Hoekstra, Pieter J., Huyser, Chaim, Kim, Young Key, Kim, Young-Shin, King, Robert A., Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett L., Madruga-Garrido, Marcos, Mir, Pablo, Morer, Astrid, Münchau, Alexander, Plessen, Kerstin J., Roessner, Veit, Shin, Eun-Young, Song, Dong-Ho, Song, Jungeun, Tischfield, Jay A., Willsey, A. Jeremy, Zinner, Samuel, Aschauer, Harald, Barr, Cathy L., Barta, Csaba, Batterson, James R., Berlin, Cheston, Brown, Lawrence, Budman, Cathy L., Cath, Danielle C., Coffey, Barbara J., Coppola, Giovanni, Cox, Nancy J., Darrow, Sabrina, Davis, Lea K., Depienne, Christel, Dietrich, Andrea, Dion, Yves, Fernandez, Thomas, Freimer, Nelson B., Gilbert, Donald, Grados, Marco A., Greenberg, Erica, Hartmann, Andreas, Hebebrand, Johannes, Heiman, Gary, Hirschtritt, Matthew E., Hoekstra, Pieter, Huang, Alden Y., Illmann, Cornelia, Jankovic, Joseph, King, Robert A., Kuperman, Samuel, Lee, Paul C., Lyon, Gholson J., Malaty, Irene A., Mathews, Carol A., McMahon, William M., Müller-Vahl, Kirsten, Nagy, Peter, Neale, Benjamin M., Nöthen, Markus M., Okun, Michael S., Osiecki, Lisa, Paschou, Peristera, Rizzo, Renata, Robertson, Mary M., Rouleau, Guy A., Sandor, Paul, Scharf, Jeremiah M., Schlögelhofer, Monika, Singer, Harvey S., Stamenkovic, Mara, Stuhrmann, Manfred, Sul, Jae Hoon, Tarnok, Zsanett, Tischfield, Jay, Tsetsos, Fotis, Willsey, A. Jeremy, Woods, Douglas, Worbe, Yulia, Yu, Dongmei, Zinner, Samuel
Publicado 2021